chr20:4699534:C>A Detail (hg38) (PRNP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:4,680,180-4,680,180 View the variant detail on this assembly version. |
hg38 | chr20:4,699,534-4,699,534 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000311.3:c.314C>A | NP_000302.1:p.Pro105Gln |
NM_001080121.1:c.314C>A | NP_001073590.1:p.Pro105Gln | |
NM_001080122.1:c.314C>A | NP_001073591.1:p.Pro105Gln |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.600 | Gerstmann-Straussler-Scheinker Disease | NA | CLINVAR | Detail | |
0.481 | Prion Diseases | NA | CLINVAR | Detail | |
0.481 | Prion Diseases | Eight patients with prion diseases were examined: three with sporadic Creutzfeld... | BeFree | 15716520 | Detail |
0.004 | Ataxia | A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein g... | BeFree | 19443103 | Detail |
0.600 | Gerstmann-Straussler-Scheinker Disease | Eight patients with prion diseases were examined: three with sporadic Creutzfeld... | BeFree | 15716520 | Detail |
<0.001 | cerebellar ataxia | Our aim was to screen for the P102L and other six known PRNP gene mutations (P10... | BeFree | 18566986 | Detail |
0.001 | Paraparesis, Spastic | A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein g... | BeFree | 19443103 | Detail |
0.600 | Gerstmann-Straussler-Scheinker Disease | A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein g... | BeFree | 19443103 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJ... | DisGeNET | Detail |
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation present... | DisGeNET | Detail |
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJ... | DisGeNET | Detail |
Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E2... | DisGeNET | Detail |
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation present... | DisGeNET | Detail |
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation present... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs11538758 dbSNP
- Genome
- hg38
- Position
- chr20:4,699,534-4,699,534
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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